(Q42905509)

10 November 2017

title

Treatment of intractable epilepsy in a female with SLC6A8 deficiency (English)

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10 November 2017

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8

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Sylvia Stockler-Ipsiroglu

10 November 2017

11

object named as

Sylvia Stockler-Ipsiroglu

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Saadet Mercimek-Mahmutoglu

10 November 2017

1

object named as

Saadet Mercimek-Mahmutoglu

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10 November 2017

Mary B Connolly

2

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10 November 2017

Kenneth J Poskitt

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10 November 2017

Gabriella A Horvath

4

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Noel Lowry

5

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10 November 2017

Gajja S Salomons

6

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10 November 2017

Brett Casey

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Cynthia Davis

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10 November 2017

Cornelis Jakobs

10

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10 November 2017

publication date

26 August 2010

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Molecular Genetics and Metabolism

10 November 2017

published in

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10 November 2017

volume

101

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10 November 2017

issue

4

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10 November 2017

page(s)

409-412

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X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.

10 November 2017

cites work

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.08.016

Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.08.016

Congenital creatine transporter deficiency

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.08.016

X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.08.016

X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.08.016

Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.08.016

Arginine supplementation in four patients with X-linked creatine transporter defect.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.08.016

Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.08.016

Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.08.016

Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.08.016

GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.08.016

Severe epilepsy in X-linked creatine transporter defect (CRTR-D).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.08.016

Functional insights into the creatine transporter.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.08.016

Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.08.016

Activation of GABA(A) receptors by guanidinoacetate: a novel pathophysiological mechanism.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.08.016

Expression and function of AGAT, GAMT and CT1 in the mammalian brain

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.08.016

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2010.08.016

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10 November 2017

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